Danielle Mauger’s father was one of nine children — and despite there being more than 44 people on his side of the family, the whole family had always been close. They had also always been fairly healthy, which is why it was a shock when her father passed away just six months after being diagnosed with gallbladder cancer.

When Danielle’s uncle was diagnosed with gallbladder cancer just three months later — and passed away two years after that — it became clear that something ran in the family.

Each of her father’s siblings had their gallbladders removed voluntarily. Even though they were proactive, Danielle’s aunt then passed away from pancreatic cancer.

This chain of events made her wonder: Was her father’s cancer really gallbladder cancer — or was it pancreatic cancer, which is commonly mistaken for gallbladder disease?

Searching For Clues in Her DNA

Danielle's late aunt and father.

Danielle, who had always made health a priority, wanted to know more about her family history. She began to look into genetic testing, hoping it might lead to answers.

Genetic testing is a way to take a closer look at your chromosomes, genes, and proteins in search of any changes. The results of these tests can help you understand your risk for genetic conditions. There are more than 1,000 genetic tests — and counting — currently in use.

Her cousin, who is a breast cancer survivor, had heard about a genetic study at Penn Medicine, and together the family sent in DNA samples.

That’s when she found out that she’s a carrier of the ATM mutation, meaning her DNA in that gene is different than most people. This puts her at a higher risk of both pancreatic cancer and breast cancer. This mutation confirmed what the family had thought was a possibility all along — that her father’s cancer might not have been gallbladder cancer after all.

Danielle met with Anil K. Rustgi, MD, Chief of the Division of Gastroenterology and Director of the Clinical Digestive and Liver Center at Penn Medicine. With Dr. Rustgi, she found herself on a journey toward understanding her genetics and taking charge of her own health in a new way.

New Knowledge, New Plan

Danielle says the genetic testing has changed the way she views her heath.

“For me, personally, and for my family members who are participating in the study, the genetic testing means a lot. I have three kids and I’m 45 years old. I just can’t imagine — all of a sudden, one day, you have cancer, and then you’re gone in 6 months. For me, this process gives us hope. So, we’re staying ahead of it,” she says.

And that’s what she’s done.

Dr. Rustgi performed an ultrasound — which takes images of her gallbladder — where he found a mark on her gallbladder. By removing the gallbladder, they found out it was not cancerous. For most people, that might be the end of the story. But not for Danielle.

Because she carries the ATM gene mutation, Danielle knows that staying ahead of any signs of cancer is key. Pancreatic cancer is often not diagnosed until late stages, which can make it harder to treat.

She remains proactive by getting an endoscopic ultrasound to take images of her pancreas and surrounding organs once a year. And because the ATM gene is associated with increased breast cancer risk, Danielle also alternates between a mammogram and breast MRI every six months, and is followed by Kara Maxwell, MD, of Penn's Breast Cancer Risk Evaluation Program.

Since Penn Medicine is actively engaged in research to better understand hereditary cancer and discover prevention options, patients like Danielle know they have a trusted place to turn to when they receive a complex genetic test result.

As for the testing, Danielle says it’s worth the effort: “If I do have cancer, we will catch it far in advance; I feel like it’ll be okay."

Beyond Medicine: A Changed Perspective

Danielle and her family at the 2018 Philadelphia Eagles Game in London.

Having so many family members affected by cancer has changed Danielle’s outlook on life.

“It makes you think about your life, and who you’re spending time with and what you’re doing,” she says.

When she realized that running her own fitness studio was causing too much stress, she closed up shop. “Life is so short, and we’re lucky that we’re here and we get to be alive. I didn’t want to be living a stressed life every day,” she says.

Danielle sometimes thinks back to days when she taught classes in her fitness studio and taught her students a mantra, inspired by her father: “Healthy, strong, alive.”

This mantra deeply impacted the members of her gym, and many told her that she had made them think, brought them to tears, and helped them. Now, those words help Danielle, too.

“That was the good that came out of the whole experience — knowing and appreciating that we’re lucky to be alive,” she says. This outlook pushes her to stay on her journey of genetic testing at Penn Medicine — to know she’s finding a way to remain healthy, strong, and alive.